MYL11
Function
Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development (By similarity). Plays a role in muscle contraction (By similarity).
Involvement in disease
Arthrogryposis, distal, 1C
DA1C
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in fetal and adult skeletal muscle.
Alternative names
HSRLC, MYLPF, MYL11, Myosin regulatory light chain 11, Fast skeletal myosin light chain 2, MLC2B, Myosin light chain 11